Genetic testing for the disease has been commercially available through doctors' offices since 1997, but most patients have never been tested for it. This is a tragic health situation, because the effects of hemochromatosis can be devastating, and include: hypothyroidism, chronic fatigue, infertility, arthritis, diabetes, sudden heart attack, primary liver cancer, and liver failure/heart failure resulting in the need for a liver and/or heart transplant.
Symptoms of hemochromatosis include:
- ongoing fatigue
- arthritis-like pain in joints, in particular, the middle two fingers
- loss of libido (sex drive), impotence
- early absence of menstrual periods
- changes in skin color, yellowish, bronze, grey, olive
- redness in the palms
- abdominal pain
- shortness of breath
- heart arrhythmia
- elevated blood sugar
Hemachromatosis is not easy to diagnose, as it is not revealed in routine blood work. Serum iron, which is a more common test used to evaluate iron levels, is not considered reliable for diagnosis of hemachromatosis. Being told your "iron levels are normal" does not mean that you have been tested properly for hemachromatosis.
Now, however, there are "do it yourself" direct tests for hemachromatosis that may help the many undiagnosed people discover this often hidden condition. Sandra Thomas, founder and president of the non-profit American Hemochromatosis Society, is recommending family genetic screening for hereditary hemochromatosis (HH) through HealthCheckUSA, a company that offers health testing products in a number of categories.
If you have symptoms of hemachromatosis, or any family history of the disease, you'll want to order a painless hemochromatosis DNA genetic test kit (performed with a swab on the cheek) as well as the iron blood tests-transferrin saturation percentage and serum ferritin tests that diagnose hemochromatosis. No doctor's prescription is required to order these tests.
Having a thyroid condition also puts you at increased risk of the opposite problem, anemia, a deficiency of iron. For more information, read Iron, Anemia and Hypothyroidism.